Infectious Diseases in Patients with IRAK-4, MyD88, NEMO, or IκBα Deficiency

被引:284
作者
Picard, Capucine [1 ,2 ,3 ,4 ]
Casanova, Jean-Laurent [1 ,3 ,4 ,5 ,6 ]
Puel, Anne [1 ,3 ,4 ]
机构
[1] INSERM, Necker Fac, Lab Human Genet Infect Dis, U980, F-75015 Paris, France
[2] Hop Necker Enfants Malad, AP HP, Study Ctr Primary Immunodeficiencies, Paris, France
[3] Necker Med Sch, Paris, France
[4] Paris Descartes Univ, Paris, France
[5] Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, New York, NY 10021 USA
[6] Hop Necker Enfants Malad, AP HP, Pediat Hematol Immunol Unit, Paris, France
关键词
ANHIDROTIC ECTODERMAL DYSPLASIA; ESSENTIAL MODULATOR MUTATION; RECEPTOR-ASSOCIATED KINASE-4; PYOGENIC BACTERIAL-INFECTIONS; HERPES-SIMPLEX ENCEPHALITIS; CORD BLOOD TRANSPLANTATION; X-CHROMOSOME INACTIVATION; TOLL-LIKE RECEPTORS; INCONTINENTIA PIGMENTI; IMMUNE-DEFICIENCY;
D O I
10.1128/CMR.00001-11
中图分类号
Q93 [微生物学];
学科分类号
071005 ; 100705 ;
摘要
[No abstract available]
引用
收藏
页码:490 / 497
页数:8
相关论文
共 74 条
[1]   Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-γ) [J].
Aradhya, S ;
Courtois, G ;
Rajkovic, A ;
Lewis, RA ;
Levy, M ;
Israël, A ;
Nelson, DL .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (03) :765-771
[2]   Impaired neutrophil migration and phagocytosis in IRAK-4 deficiency [J].
Bouma, Gerben ;
Doffinger, Rainer ;
Patel, Smita Y. ;
Peskett, Emma ;
Sinclair, Joanna C. ;
Barcenas-Morales, Gabriela ;
Cerron-Gutierrez, Lourdes ;
Kumararatne, Dinakantha S. ;
Graham Davies, E. ;
Thrasher, Adrian J. ;
Burns, Siobhan O. .
BRITISH JOURNAL OF HAEMATOLOGY, 2009, 147 (01) :153-156
[3]   Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases [J].
Bustarnante, Jacinta ;
Boisson-Dupuis, Stephanie ;
Jouanguy, Ernmanuelle ;
Picard, Capucine ;
Puel, Anne ;
Abel, Laurent ;
Casanova, Jean-Laurent .
CURRENT OPINION IN IMMUNOLOGY, 2008, 20 (01) :39-48
[4]   Autosomal recessive interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives [J].
Cardenes, Maria ;
von Bernuth, Horst ;
Garcia-Saavedra, Ayoze ;
Santiago, Esther ;
Puel, Anne ;
Ku, Cheng-Lung ;
Emile, Jean-Francois ;
Picard, Capucine ;
Casanova, Jean-Laurent ;
Colino, Elena ;
Bordes, Ana ;
Garfia, Antonio ;
Rodriguez-Gallego, Carlos .
JOURNAL OF PEDIATRICS, 2006, 148 (04) :549-551
[5]   The human adaptor SARM negatively regulates adaptor protein TRIF-dependent Toll-like receptor signaling [J].
Carty, Michael ;
Goodbody, Rory ;
Schroeder, Martina ;
Stack, Julianne ;
Moynagh, Paul N. ;
Bowie, Andrew G. .
NATURE IMMUNOLOGY, 2006, 7 (10) :1074-1081
[6]   Perspective - Primary immunodeficiencies: A field in its infancy [J].
Casanova, Jean-Laurent ;
Abel, Laurent .
SCIENCE, 2007, 317 (5838) :617-619
[7]   Inborn errors of immunity to infection: the rule rather than the exception [J].
Casanova, JL ;
Abel, L .
JOURNAL OF EXPERIMENTAL MEDICINE, 2005, 202 (02) :197-201
[8]   Herpes simplex virus encephalitis in human UNC-93B deficiency [J].
Casrouge, Armanda ;
Zhang, Shen-Ying ;
Eidenschenk, Celine ;
Jouanguy, Emmanuelle ;
Puel, Anne ;
Yang, Kun ;
Alcais, Alexandre ;
Picard, Capucine ;
Mahfoufi, Nora ;
Nicolas, Nathalie ;
Lorenzo, Lazaro ;
Plancoulaine, Sabine ;
Senechal, Brigitte ;
Geissmann, Frederic ;
Tabeta, Koichi ;
Hoebe, Kasper ;
Du, Xin ;
Miller, Richard L. ;
Heron, Benedicte ;
Mignot, Cyril ;
de Villemeur, Thierry Billette ;
Lebon, Pierre ;
Dulac, Olivier ;
Rozenberg, Flore ;
Beutler, Bruce ;
Tardieu, Marc ;
Abel, Laurent ;
Casanova, Jean-Laurent .
SCIENCE, 2006, 314 (5797) :308-312
[9]   A male infant with anhidrotic ectodermal dysplasia/immunodeficiency accompanied by incontinentia pigmenti and a mutation in the NEMO pathway [J].
Chang, Timothy T. ;
Behshad, Ramona ;
Brodell, Robert T. ;
Gilliam, Anita C. .
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2008, 58 (02) :316-320
[10]   Shigella sonnei meningitis due to interleukin-1 receptor-associated kinase-4 deficiency:: First association with a primary immune deficiency [J].
Chapel, H ;
Puel, A ;
von Bernuth, H ;
Picard, C ;
Casanova, JL .
CLINICAL INFECTIOUS DISEASES, 2005, 40 (09) :1227-1231